Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene

BackgroundAutosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal de...

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发表在:	Frontiers in Genetics
Main Authors:	Lixue Ouyang, Fan Yang, Hongyu Duan, Chuan Wang
格式:	文件
语言:	英语
出版:	Frontiers Media S.A. 2024-12-01
主题:	autosomal recessive cutis laxa type 1B ARCL1B EFEMP2 heart failure arterial dysplasia
在线阅读:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1453195/full